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2017 1
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2019 21
2020 4
2024 0

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Page 1
NBS1 interacts with HP1 to ensure genome integrity.
Bosso G, Cipressa F, Moroni ML, Pennisi R, Albanesi J, Brandi V, Cugusi S, Renda F, Ciapponi L, Polticelli F, Antoccia A, di Masi A, Cenci G. Bosso G, et al. Cell Death Dis. 2019 Dec 13;10(12):951. doi: 10.1038/s41419-019-2185-x. Cell Death Dis. 2019. PMID: 31836699 Free PMC article.
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Villar-Quiles RN, Catervi F, Cabet E, Juntas-Morales R, Genetti CA, Gidaro T, Koparir A, Yüksel A, Coppens S, Deconinck N, Pierce-Hoffman E, Lornage X, Durigneux J, Laporte J, Rendu J, Romero NB, Beggs AH, Servais L, Cossée M, Olivé M, Böhm J, Duband-Goulet I, Ferreiro A. Villar-Quiles RN, et al. Ann Neurol. 2020 Feb;87(2):217-232. doi: 10.1002/ana.25660. Epub 2019 Dec 27. Ann Neurol. 2020. PMID: 31794073 Free PMC article.
Central Role of Subthreshold Currents in Myotonia.
Metzger S, Dupont C, Voss AA, Rich MM. Metzger S, et al. Ann Neurol. 2020 Feb;87(2):175-183. doi: 10.1002/ana.25646. Epub 2019 Nov 27. Ann Neurol. 2020. PMID: 31725924 Free PMC article. Review.
The p75NTR neurotrophin receptor is required to organize the mature neuromuscular synapse by regulating synaptic vesicle availability.
Pérez V, Bermedo-Garcia F, Zelada D, Court FA, Pérez MÁ, Fuenzalida M, Ábrigo J, Cabello-Verrugio C, Moya-Alvarado G, Tapia JC, Valenzuela V, Hetz C, Bronfman FC, Henríquez JP. Pérez V, et al. Acta Neuropathol Commun. 2019 Sep 12;7(1):147. doi: 10.1186/s40478-019-0802-7. Acta Neuropathol Commun. 2019. PMID: 31514753 Free PMC article.
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
Punetha J, Karaca E, Gezdirici A, Lamont RE, Pehlivan D, Marafi D, Appendino JP, Hunter JV, Akdemir ZC, Fatih JM, Jhangiani SN, Gibbs RA, Innes AM, Posey JE, Lupski JR. Punetha J, et al. Ann Clin Transl Neurol. 2019 Aug;6(8):1395-1406. doi: 10.1002/acn3.50824. Epub 2019 Jul 11. Ann Clin Transl Neurol. 2019. PMID: 31402629 Free PMC article.
34 results